Aliases for RBFOX1 Gene
External Ids for RBFOX1 Gene
Previous GeneCards Identifiers for RBFOX1 Gene
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for RBFOX1 Gene
RBFOX1 (RNA Binding Fox-1 Homolog 1) is a Protein Coding gene. Diseases associated with RBFOX1 include Benign Epilepsy With Centrotemporal Spikes and Spinocerebellar Ataxia 2. Among its related pathways are AKT Siganaling Pathway and MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBFOX2.
UniProtKB/Swiss-Prot Summary for RBFOX1 Gene
RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.